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https://www.readbyqxmd.com/read/29342457/the-von-hippel-lindau-gene-is-required-to-maintain-renal-proximal-tubule-and-glomerulus-integrity-in-zebrafish-larvae
#1
Ellen van Rooijen, Glenn van de Hoek, Ive Logister, Henry Ajzenberg, Nine V A M Knoers, Freek van Eeden, Emile E Voest, Stefan Schulte-Merker, Rachel H Giles
BACKGROUND: von Hippel-Lindau (VHL) disease is characterized by the development of benign and malignant tumours in many organ systems, including renal cysts and clear cell renal cell carcinoma. It is not completely understood what underlies the development of renal pathology, and the use of murine Vhl models has been challenging due to limitations in disease conservation. We previously described a zebrafish model bearing inactivating mutations in the orthologue of the human VHL gene. METHODS: We used histopathological and functional assays to investigate the pronephric and glomerular developmental defects in vhl mutant zebrafish, supported by human cell culture assays...
January 17, 2018: Nephron
https://www.readbyqxmd.com/read/29341163/extent-of-surgery-for-phaeochromocytomas-in-the-genomic-era
#2
REVIEW
H M Rossitti, P Söderkvist, O Gimm
BACKGROUND: Germline mutations are present in 20-30 per cent of patients with phaeochromocytoma. For patients who develop bilateral disease, complete removal of both adrenal glands (total adrenalectomy) will result in lifelong adrenal insufficiency with an increased risk of death from adrenal crisis. Unilateral/bilateral adrenal-sparing surgery (subtotal adrenalectomy) offers preservation of cortical function and independence from steroids, but leaves the adrenal medulla in situ and thus at risk of developing new and possibly malignant disease...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29340905/expression-of-vhl-tumor-suppressor-mrna-and-mir-92a-in-papillary-thyroid-carcinoma-and-their-correlation-with-clinical-and-pathological-parameters
#3
Lidija Todorović, Boban Stanojević, Vesna Mandušić, Nina Petrović, Vladan Živaljević, Ivan Paunović, Aleksandar Diklić, Vladimir Saenko, Shunichi Yamashita
A growing body of evidence suggests a role of the von Hippel-Lindau (VHL) tumor suppressor gene in the progression of papillary thyroid carcinoma (PTC). Our previous study of VHL in PTCs showed that lower VHL expression was associated with aggressive tumor features, but we found no evidence for VHL downregulation through common genetic or epigenetic modifications. Several studies pointed to a role of microRNA-92a (miR-92a) in the regulation of VHL expression in different cancers. In the present study, we examined the expression levels of VHL mRNA and miR-92a in 42 pairs of PTCs and matched non-tumor thyroid tissues by means of quantitative RT-PCR...
January 16, 2018: Medical Oncology
https://www.readbyqxmd.com/read/29330617/characterizing-genomic-differences-of-human-cancer-stratified-by-the-tp53-mutation-status
#4
Mengyao Wang, Chao Yang, Xiuqing Zhang, Xiangchun Li
The key roles of the TP53 mutation in cancer have been well established. TP53 is the most frequently mutated gene, and its inactivation is widespread among human cancer types. However, the landscape of genomic alterations in human cancers stratified by the TP53 mutation has not yet been described. We obtained somatic mutation and copy number change data of 6551 regular-mutated samples from the Cancer Genome Atlas (TCGA) and compared significantly mutated genes (SMGs), copy number alterations, mutational signatures and mutational strand asymmetries between cancer samples with and without the TP53 mutation...
January 12, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29330336/risk-factors-for-survival-in-patients-with-von-hippel-lindau-disease
#5
Jiang-Yi Wang, Shuang-He Peng, Teng Li, Xiang-Hui Ning, Sheng-Jie Liu, Bao-An Hong, Jia-Yuan Liu, Peng-Jie Wu, Bo-Wen Zhou, Jing-Cheng Zhou, Nie-Nie Qi, Xiang Peng, Jiu-Feng Zhang, Kai-Fang Ma, Lin Cai, Kan Gong
BACKGROUND: Historically, von Hippel-Lindau (VHL) disease is characterised by a poor survival. Although genotype-phenotype correlation has been described in many studies, the risk factors for VHL survival remain unclear. This study aims to evaluate the median survival of Chinese patients with VHL disease and explore whether VHL survival is influenced by genetic and clinical factors. METHODS: In this retrospective study, we recruited 340 patients from 127 VHL families...
January 12, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29325224/hereditary-kidney-cancer-syndromes-genetic-disorders-driven-by-alterations-in-metabolism-and-epigenome-regulation
#6
Hisashi Hasumi, Masahiro Yao
Although hereditary kidney cancer syndrome accounts for around five percent of all kidney cancers, the mechanistic insight into tumor development in these rare conditions has provided the foundation for the development of molecular targeting agents currently used for sporadic kidney cancer. In the late 1980s, the comprehensive study for hereditary kidney cancer syndrome was launched in the National Cancer Institute, U.S.A. and the first kidney cancer associated gene, VHL was identified through kindred analysis of von Hippel-Lindau syndrome in 1993...
January 11, 2018: Cancer Science
https://www.readbyqxmd.com/read/29322935/classifying-cancer-genome-aberrations-by-their-mutually-exclusive-effects-on-transcription
#7
Jonathan B Dayton, Stephen R Piccolo
BACKGROUND: Malignant tumors are typically caused by a conglomeration of genomic aberrations-including point mutations, small insertions, small deletions, and large copy-number variations. In some cases, specific chemotherapies and targeted drug treatments are effective against tumors that harbor certain genomic aberrations. However, predictive aberrations (biomarkers) have not been identified for many tumor types and treatments. One way to address this problem is to examine the downstream, transcriptional effects of genomic aberrations and to identify characteristic patterns...
December 21, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/29322795/analysis-of-dna-methylation-and-microrna-expression-in-nut-nuclear-protein-in-testis-midline-carcinoma-of-the-sinonasal-tract-a-clinicopathological-immunohistochemical-and-molecular-genetic-study
#8
J Laco, H Kovarikova, M Chmelarova, H Vosmikova, K Sieglova, I Bubancova, P Dundr, K Nemejcova, J Michalek, P Celakovsky, R Mottl, I Sirak, M Vosmik, I Marek, T Geryk, J Mejzlik, J Satankova, A Ryska
The aim of this study was a detailed clinicopathological investigation of sinonasal NUT midline carcinoma (NMC), including analysis of DNA methylation and microRNA (miRNA) expression. Three (5%) cases of NMC were detected among 56 sinonasal carcinomas using immunohistochemical screening and confirmed by fluorescence in situ hybridization. The series comprised 2 males and 1 female, aged 46, 60, and 65 years. Two tumors arose in the nasal cavity and one in the maxillary sinus. The neoplasms were staged pT1, pT3, and pT4a (all cN0M0)...
2018: Neoplasma
https://www.readbyqxmd.com/read/29321190/genomic-landscape-of-pancreatic-neuroendocrine-tumours-the-international-cancer-genome-consortium
#9
Andrea Mafficini, Aldo Scarpa
Neuroendocrine tumours (NETs) may arise throughout the body and are a highly heterogeneous, relatively rare class of neoplasms difficult to study also for the lack of disease models. Despite this, knowledge on their molecular alterations has expanded in the latest years, also building from genetic syndromes causing their onset. Pancreatic NETs (PanNETs) have been among the most studied, and research so far has outlined a series of recurring features, as inactivation of MEN1, VHL, TSC1/2 genes, and hyperactivation of the PI3K/mTOR pathway...
January 10, 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29317756/non-coding-rnas-predict-recurrence-free-survival-of-patients-with-hypoxic-tumours
#10
Victor D Martinez, Natalie S Firmino, Erin A Marshall, Kevin W Ng, Brennan J Wadsworth, Christine Anderson, Wan L Lam, Kevin L Bennewith
Hypoxia promotes tumour aggressiveness and reduces patient survival. A spectrum of poor outcome among patients with hypoxic tumours suggests that additional factors modulate how tumours respond to hypoxia. PIWI-interacting RNAs (piRNAs) are small non-coding RNAs with a pivotal role in genomic stability and epigenetic regulation of gene expression. We reported that cancer type-specific piRNA signatures vary among patients. However, remarkably homogenous piRNA profiles are detected across patients with renal cell carcinoma, a cancer characterized by constitutive upregulation of hypoxia-related signaling induced by common mutation or loss of von Hippel-Lindau factor (VHL)...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29312473/central-nervous-system-gadolinium-accumulation-in-patients-undergoing-periodical-contrast-mri-screening-for-hereditary-tumor-syndromes
#11
Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C Jansen, Vera Van Velthoven, Sven Gläsker
Background: Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening with Gadolinium contrast. Gadolinium accumulation has recently been described in the central nervous system after repeated administrations. The prevalence and rate of accumulation in different subgroups of patients are unknown. Neither are the mechanism nor clinical impact. This may cause uncertainty about the screening. To explore the prevalence and rate of Gadolinium accumulation in different subgroups, we retrospectively analyzed MRIs of patients with von Hippel-Lindau disease (VHL) and Tuberous Sclerosis Complex (TSC)...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29310192/re-myc-activation-cooperates-with-vhl-and-ink4a-arf-loss-to-induce-clear-cell-renal-cell-carcinoma
#12
Anthony Atala
No abstract text is available yet for this article.
January 2018: Journal of Urology
https://www.readbyqxmd.com/read/29301791/deletion-of-the-von-hippel-lindau-gene-in-hemangioblasts-causes-hemangioblastoma-like-lesions-in-murine-retina
#13
Herui Wang, Matthew Shepard, Chao Zhang, Lijin Dong, Dyvon T Walker, Liliana Guedez, Stanley Park, Yujuan Wang, Shida Chen, Ying Pang, Qi Zhang, Chun Gao, Wai T Wong, Henry Wiley, Karel Pacak, Emily Y Chew, Zhengping Zhuang, Chi-Chao Chan
von Hippel-Lindau (VHL) disease is an autosomal dominant tumor predisposition syndrome characterized by the development of highly vascularized tumors and cysts. Loss of heterozygosity (LOH) of the VHL gene results in aberrant upregulation of hypoxia-inducible factors (HIF) and has been associated with tumor formation. Hemangioblastomas of the central nervous system and retina represent the most prevalent VHL-associated tumors, but no VHL animal model has reproduced retinal capillary hemangioblastomas (RCH), the hallmark lesion of ocular VHL...
January 4, 2018: Cancer Research
https://www.readbyqxmd.com/read/29295567/minoxidil-induction-of-vegf-is-mediated-by-inhibition-of-hif-prolyl-hydroxylase
#14
Soohwan Yum, Seongkeun Jeong, Dohoon Kim, Sunyoung Lee, Wooseong Kim, Jin-Wook Yoo, Jung-Ae Kim, Oh Sang Kwon, Dae-Duk Kim, Do Sik Min, Yunjin Jung
The topical application of minoxidil may achieve millimolar concentrations in the skin. We investigated whether millimolar minoxidil could induce vascular endothelial growth factor (VEGF), a possible effector for minoxidil-mediated hair growth, and how it occurred at the molecular level. Cell-based experiments were performed to investigate a molecular mechanism underlying the millimolar minoxidil induction of VEGF. The inhibitory effect of minoxidil on hypoxia-inducible factor (HIF) prolyl hydroxylase-2 (PHD-2) was tested by an in vitro von Hippel-Lindau protein (VHL) binding assay...
December 25, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29290462/-retinal-hemangioblastoma-treatment-strategy-and-long-term-follow-up-in-a-retrospective-cohort
#15
A Lefevre, T Mathis, P Denis, L Kodjikian
INTRODUCTION: Retinal hemangioblastoma (RH) is a benign vascular tumor frequently associated with Von Hippel-Lindau disease (VHL). Tumor growth of RH may lead to deterioration of visual acuity, which can be difficult to treat. Early diagnosis may reduce complication rate and side effects of treatment. The present retrospective study evaluates the long-term follow-up and complications of RH treatment as a function of the therapeutic strategy used. MATERIALS AND METHODS: The study included patients with RH, followed at Croix Rousse university hospital, Lyon between 2010 and 2017...
December 28, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29260521/-research-on-relationship-of-hif-1-signaling-pathway-and-postmenstrual-osteoporosis
#16
Hang Zhong, Can Cao, Jing Yang, Qiang Huang
OBJECTIVE: Exploring the role of hypoxia-induceibal factor-1 (HIF-1) signaling pathway in postmenstrual osteoporosis (PMOP) and how to play a role in PMOP. METHODS: Sixty C57BL/6J female mouse were randomly divided into 4 groups: sham-operation group (A group),ovariectomized PMOP group (B group),HIF-1 alpha inhibitor 2-methoxy estradiol (2ME2) treatment group(D group) and solvent control group(C group),15 mice in each group. There months after modeling,the metabolism product of mouse bone tissue including serum propeptide of typeⅠ procollagen (PINP),C-terminal telopeptide-Ⅰ (CTX-1) and serum estrogen were quantified by enzyme-linked immunosorbent assay (ELISA)...
November 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29250065/differentiation-and-functionality-of-bone-marrow-derived-mast-cells-depend-on-varying-physiologic-oxygen-conditions
#17
Helene Möllerherm, Karsten Meier, Kathrin Schmies, Herbert Fuhrmann, Hassan Y Naim, Maren von Köckritz-Blickwede, Katja Branitzki-Heinemann
Mast cells (MCs) are long-living multifunctional innate immune cells that originate from hematopoietic precursors and specifically differentiate in the destination tissue, e.g., skin, respiratory mucosa, intestine, where they mediate immune cell recruitment and antimicrobial defense. In vivo these tissues have characteristic physiological oxygen levels that are considerably lower than the atmospheric oxygen conditions (159 mmHg, 21% O2; 5% CO2) traditionally used to differentiate MCs and to study their functionality in vitro...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29247901/temporal-distribution-of-suicide-mortality-a-systematic-review
#18
REVIEW
Pauliana Valéria Machado Galvão, Hugo Rafael Souza E Silva, Cosme Marcelo Furtado Passos da Silva
BACKGROUND: suicide is a problem with world impact and the leading cause of premature deaths. The study of its distribution over time can bring a changed understanding of parameters attributed to, and the prevention of, suicide. AIM: to identify the temporal pattern of suicide by systematic review. METHODS: Pubmed (Medline), LILACS, Virtual Health Library (VHL), Science Direct and Scopus (Elsevier), Web of Science (Thomson Reuters) and PsyNET (APA) were searched, using suicide-related descriptors and terms, for observational epidemiological studies of the temporal distribution of suicide...
December 7, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29245961/proteome-profiling-of-clear-cell-renal-cell-carcinoma-in-von-hippel-lindau-patients-highlights-upregulation-of-xaa-pro-aminopeptidase-1-an-anti-proliferative-and-anti-migratory-exoprotease
#19
Vanessa Drendel, Bianca Heckelmann, Chia-Yi Chen, Juliane Weisser, Guadalupe Espadas, Christoph Schell, Eduard Sabido, Martin Werner, Cordula A Jilg, Oliver Schilling
Patients of the von Hippel-Lindau (VHL) disease frequently develop clear cell renal cell carcinoma (ccRCC). Using archived, formalin-fixed, paraffin-embedded (FFPE) samples, we sought to determine global proteome alterations that distinguish ccRCC tissue from adjacent, non-malignant kidney tissue in VHL-patients. Our quantitative proteomic analysis clearly discriminated tumor and non-malignant tissue. Significantly dysregulated proteins were distinguished using the linear models for microarray data algorithm...
November 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/29241538/an-elongin-cullin-socs-box-complex-regulates-stress-induced-serotonergic-neuromodulation
#20
Xicotencatl Gracida, Michael F Dion, Gareth Harris, Yun Zhang, John A Calarco
Neuromodulatory cells transduce environmental information into long-lasting behavioral responses. However, the mechanisms governing how neuronal cells influence behavioral plasticity are difficult to characterize. Here, we adapted the translating ribosome affinity purification (TRAP) approach in C. elegans to profile ribosome-associated mRNAs from three major tissues and the neuromodulatory dopaminergic and serotonergic cells. We identified elc-2, an Elongin C ortholog, specifically expressed in stress-sensing amphid neuron dual ciliated sensory ending (ADF) serotonergic sensory neurons, and we found that it plays a role in mediating a long-lasting change in serotonin-dependent feeding behavior induced by heat stress...
December 12, 2017: Cell Reports
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